Abstract
To report two sisters with bilateral progressive visual loss and photophobia secondary to stem cell deficiency due to multiple endocrine deficiency. Case reports and review of medical literature. The younger sister had severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits no definite cause was found and conservative treatments failed. On slit lamp examination severe meibomian gland dysfunction, loss of eyelashes, decreased tear meniscus, diffuse corneal vascularization, and delayed punctate fluorescein staining of corneal epithelium were detected. She also had episodes of hypotension, oral candidiasis, and seizures. Her systemic workup revealed multiple endocrine deficiency (Addison's disease and hypoparathyroidism). Hormone replacement therapy with fludrocortisone and oral calcium accompanied by punctual occlusion led to significant clinical recovery . The older sister showed a similar pattern but interestingly the onset was later and the signs and symptoms were milder. In the pediatric age group with diffuse corneal vascularization and no definite cause, systemic workup should be done to rule out multiple endocrine deficiencies. The therapy consists of hormone replacement therapy and management of dry eye.
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